ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.1514G>A (p.Gly505Glu)

gnomAD frequency: 0.00001  dbSNP: rs368008794
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001555901 SCV001777391 likely benign not provided 2021-06-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001859379 SCV002205579 likely benign Nephronophthisis 2024-11-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004542006 SCV004790597 likely benign NPHP3-related disorder 2022-04-10 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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